Variant report

Variant	rs12460285
Chromosome Location	chr19:37581116-37581117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10403877	1.00[JPT][hapmap]
rs10426229	1.00[JPT][hapmap]
rs1234287	1.00[ASN][1000 genomes]
rs12459805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460498	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12460556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460557	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460577	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460798	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460802	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460821	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461119	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12461358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12461446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461563	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462186	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12462205	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462623	1.00[ASN][1000 genomes]
rs12462629	1.00[ASN][1000 genomes]
rs12463101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12463103	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12463125	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12463280	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12463328	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1521096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1521099	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17239026	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17304758	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213840	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34191527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34994400	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35314047	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35374722	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35692141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36023046	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4358055	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56717658	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56745069	0.88[AFR][1000 genomes]
rs57057279	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57080651	0.88[AFR][1000 genomes]
rs57231148	0.88[AFR][1000 genomes]
rs57505463	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58017177	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58378903	0.88[AFR][1000 genomes]
rs58409556	0.88[AFR][1000 genomes]
rs58948692	0.88[AFR][1000 genomes]
rs59043209	0.88[AFR][1000 genomes]
rs59044151	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59055784	0.88[AFR][1000 genomes]
rs59397049	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59447056	0.88[AFR][1000 genomes]
rs60096362	0.88[AFR][1000 genomes]
rs60418129	0.88[AFR][1000 genomes]
rs60479919	0.91[ASN][1000 genomes]
rs60561021	0.88[AFR][1000 genomes]
rs60765291	0.88[AFR][1000 genomes]
rs61056688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61166122	0.88[AFR][1000 genomes]
rs61354972	0.88[AFR][1000 genomes]
rs61371510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73618072	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73618081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618082	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618094	0.95[AMR][1000 genomes]
rs73618098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618496	0.88[AFR][1000 genomes]
rs73620004	0.88[AFR][1000 genomes]
rs73620013	0.88[AFR][1000 genomes]
rs73620807	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620811	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620813	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620839	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620840	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620852	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73620862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620866	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620870	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73621760	0.88[AFR][1000 genomes]
rs73623522	0.88[AFR][1000 genomes]
rs73623524	0.88[AFR][1000 genomes]
rs73623526	0.88[AFR][1000 genomes]
rs73623563	0.88[AFR][1000 genomes]
rs73623564	0.88[AFR][1000 genomes]
rs73623569	0.88[AFR][1000 genomes]
rs73624813	0.91[ASN][1000 genomes]
rs73625205	0.88[AFR][1000 genomes]
rs73625207	0.88[AFR][1000 genomes]
rs73625229	0.88[AFR][1000 genomes]
rs73625231	0.88[AFR][1000 genomes]
rs73625236	0.88[AFR][1000 genomes]
rs73625241	0.88[AFR][1000 genomes]
rs73625242	0.88[AFR][1000 genomes]
rs73625243	0.88[AFR][1000 genomes]
rs73625257	0.88[AFR][1000 genomes]
rs73625272	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73625289	0.88[AFR][1000 genomes]
rs73626558	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626564	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626571	0.88[AFR][1000 genomes]
rs73626582	0.88[AFR][1000 genomes]
rs73626588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73626600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8113719	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37570600-37581600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr19:37571000-37594800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:37572400-37594600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
4	chr19:37572600-37595400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37572800-37594600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr19:37572800-37594800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37572800-37595400	ZNF genes & repeats	Liver	Liver
8	chr19:37575400-37592400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:37575400-37595200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:37575800-37594800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:37576000-37587800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
12	chr19:37576200-37581200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr19:37576200-37588000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr19:37576200-37591200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
15	chr19:37576200-37595600	ZNF genes & repeats	Ovary	ovary
16	chr19:37576200-37595800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr19:37576600-37581200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:37577400-37592400	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:37578200-37583000	Weak transcription	Fetal Heart	heart
20	chr19:37578800-37583200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:37578800-37585600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr19:37578800-37585600	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr19:37578800-37594600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr19:37578800-37594800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:37579000-37582200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:37579000-37585000	ZNF genes & repeats	Fetal Lung	lung
27	chr19:37579000-37585400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr19:37579000-37587800	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr19:37579000-37594800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr19:37579200-37581200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:37579200-37588000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:37579200-37593800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr19:37579400-37581800	Weak transcription	Fetal Thymus	thymus
34	chr19:37579400-37583800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:37579400-37594800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:37579600-37581400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:37579600-37581600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr19:37579600-37581600	Weak transcription	Osteobl	bone
39	chr19:37579600-37595400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:37579800-37583000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr19:37579800-37583200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:37579800-37583400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr19:37579800-37584000	Strong transcription	Left Ventricle	heart
44	chr19:37579800-37584400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:37579800-37584600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
46	chr19:37579800-37584800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:37579800-37584800	ZNF genes & repeats	Fetal Kidney	kidney
48	chr19:37579800-37584800	ZNF genes & repeats	Thymus	Thymus
49	chr19:37579800-37585000	Strong transcription	Brain Anterior Caudate	brain
50	chr19:37579800-37585000	Strong transcription	Placenta	Placenta

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